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The Personal Genome Project

What would happen if genetic and medical records were freely available to anyone who wanted them?

George Church, a geneticist at Harvard Medical School in Boston, was one of the pioneers in the Human Genome Project. Now he’s hatching a new genomic enterprise – the Personal Genome Project (PGP). Church and collaborators plan to build a database that will integrate individual genomes, medical histories, and other information about each project participant, enabling scientists to do more comprehensive genetic research – and help advance the field of personalized medicine.

While true personalized medicine is still just a goal – scientists need to develop cheaper, faster sequencing technologies before individual genome sequences even become widely available – Church hopes the project will help create that future.

And by using real medical and genomic data from specific people, the project could also create test cases for the legal and ethical issues surrounding the availability of personal and genomic records. This would give ethicists, legislators, and scientists concrete examples to study.

Technology Review: What is the Personal Genome Project?

George Church: This is a way of making personal genomics accessible for research. Some well-informed candidates will give full permission for a highly integrated set of medical resources [such as medical records] to be made publicly available.

TR: How is this different from the human genome project?

GC: The human genome was about the DNA of a single, anonymous person. The PGP is about the whole person, including their genomic information. It’s hard to do genetics with just genes. You need to connect facts about the person with the facts about DNA. You can think of it as the next step of the project.

TR: What information do you plan to collect?

GC: Conventional electronic medical records, the usual ‘omics, including RNA, proteomes, and metabolite measures, as well as imaging data, such as magnetic resonance imaging. This will give a rich phenotype, the same type of information you might want for any model organism.

TR: You have said that you hope this project will spur new technologies, biological research, and ethical guidelines. Can you elaborate?

GC: The technological goal is cheaper, faster sequencing. The biological goal is to provide a shared set of resources that academics and companies can use to do later medical analysis. The social aspect is to try to be proactive in dealing with one of the biggest problems with genomic medical research – the anonymity [of genomic data].

TR: How will the PGP spur new technologies, such as sequencing?

GC: Sequencing costs are already being brought down rapidly by alternatives to conventional sequencing. We want to get the cost of sequencing down to the point where many people can afford it, or at least break even in terms of possible medical advantages.

These technologies will also spur the PGP, and the PGP will allow technology to be applied to an interesting human sample. The PGP will provide DNA and other resources freely to anyone who wants them, such as companies developing high-throughput sequencing. And then PGP will get back the data to add to the database.

TR: You have also said that you hope the PGP will spur development of software to enable personalized medicine, the idea that doctors can treat people based on their individual genomes. Why is this kind of software important?

GC: Let’s say I gave you your genome tomorrow. Would you know what to do with it? Probably not, even if you’re a physician. Someone is going to have to help physicians decide what kinds of diagnostics might be desirable, what kinds of nutritional interventions might be useful, or what kind of invasive procedures might be delayed.

You need software to do that. Hopefully, the PGP will help form a consortium of software developers to develop and test this kind of software on the PGP database and get it ready for general public use.

TR: What are some of the risks associated with having an individual’s genome freely available?

GC: At the top of the list is the risk of insurance and employment discrimination [based on genetics]. Those risks are addressable by appropriate corporate or government regulations, such as mechanisms of insuring health care whether or not you have a genetic predisposition to a disease. We will start the project with people who are at low risk of this kind of discrimination, and people who know what they’re getting into. It’s like debugging a complex system.

Close behind is the risk of social stigma, which change from year to year. When we were younger, people would not talk about taking cancer drugs or antidepressants, but now it’s common to share that kind of information.

TR: Do you think the benefits outweigh the risks?

GC: I think the benefits of the project outweigh the risks. But each individual will have to decide if the benefits outweigh the risks for them. People need to have thought out different scenarios and be comfortable with them. For example, Jim Watson [best known for solving the structure of DNA] announced he wants to have his genome sequenced and possibly published, but he doesn’t want to know his APOE4 status [the gene variant that increases risk for Alzheimer’s disease]. So there may be other things he doesn’t want to know, but he doesn’t know what they are yet.

TR: Why is it so important to have the information publicly available?

GC: We and others have raised concerns about the difficulty of maintaining anonymity [in medical records]. You promise subjects you will make the information anonymous, but it’s becoming increasingly easy to re-identify an individual. This project will hopefully raise consciousness on what we need to do to encourage insurance companies and government and employers to make this safer. This has already been done in some countries, so it’s just a matter of policy.

TR: Are you recruiting participants for the pilot project? Who will be the pioneers?

GC: It took a year for us to get permission for the project from our institutional review board. The recruiting process will go in stages. The board asked that I start with myself because I am well-informed and could stop the project if I saw a problem. We will expand to two more people in March; and once we’ve worked out a mechanism to show that the benefits outweigh risks for the first three people, we can recruit more people. We have 140 people who would like to participate. The total number of participants [at this phase] will be limited by funds and by the review board’s assessment of how it went. We are trying to get funds for a large number of people.

The initial participants will probably be tenured human geneticists, because they know the risks and other issues. Eventually, we want a broad, diverse set of people from different social and economic groups, and both healthy and unhealthy people. But they will need to be specifically up to speed on how genetics works. This could be something very big once people tune into it. Not many know people know about it so far.

TR: How many people do you want to include in the project in the long run?

GC: If we’re talking about a broad consortium of researchers and volunteers, there is no upper limit. If you could educate a billion people to the point where they could give informed consent, the statistics would be better. But it would be a huge educational task to get to that point. There’s a need for broader education in genetics. It’s almost up there with the three Rs in terms of its fundamental impact for the future. People are sophisticated in personal electronics. Hopefully, there will be a similar motivation for understanding yourself as well as you understand your car.

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